Meckel syndrome, type 11
MONDO:0014164Mondo
Findings
No curated finding names Meckel syndrome, type 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.
Definition from the Mondo Disease Ontology (MONDO:0014164), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Occipital encephaloceleHPOHP:0002085
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 1 of 1 reported patient
- Polycystic kidney dysplasiaHPOHP:0000113
- 1 of 1 reported patient
- PolydactylyHPOHP:0010442
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TMEM231HGNC:37234
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Meckel syndrome, type 11
- Also called
- meckel syndrome 11Meckel syndrome caused by mutation in TMEM231TMEM231 Meckel syndrome